Best practice guidelines for the molecular genetic diagnosis of maturity-onset diabetes of the young.
Best practice guidelines for the molecular genetic diagnosis of maturity-onset diabetes of the young.
复制标题
最佳实践指南的成熟度糖尿病的分子遗传诊断。
DOI：
10.1007/s00125-008-0942-y
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发表时间：
2008-04
期刊：
影响因子：
8.2
通讯作者：
Hattersley, A. T.
中科院分区：
文献类型：
--
作者：
Ellard, S.;Bellanne-Chantelot, C.;Hattersley, A. T.
GCK和HNF 1A基因的突变是单基因型糖尿病的最常见原因，被称为“成年型糖尿病”。GCK编码葡萄糖激酶，作为胰腺葡萄糖传感器，突变导致稳定的轻度空腹高血糖症。在编码转录因子肝细胞核因子-1 α和-4 α的HNF 1A和HNF 4A基因突变的患者中观察到进行性胰岛素分泌缺陷。分子遗传学诊断经常改变治疗，因为GCK突变的患者很少需要药物治疗，而HNF 1A/4A突变携带者对磺脲类药物敏感。这些单基因形式的糖尿病经常被误诊为1型或2型糖尿病。制定了基因检测最佳做法指南，以指导检测和结果报告。举办了一次讲习班，讨论检测的临床标准和分子遗传检测结果的解释。参与者包括来自13个国家的22名临床医生和科学家。最佳做法准则草案是利用在线工具（http：//www.example.com）拟订和编辑的。www.coventi.com一套商定的临床标准被定义为测试婴儿，儿童和成人的GCK，HNF 1A和HNF 4A突变。讨论了报告设想方案，并提出了共识声明。针对GCK、HNF 1A和HNF 4A基因突变引起的单基因型糖尿病，已经建立了最佳实践指南。该指南包括诊断性和预测性基因检测以及对结果的解释。关于EMQN MODY小组的成员，请参见附录。有关其附属机构的详细信息，请参阅授权用户可通过本文的在线版本获得的电子补充材料（doi：10.1007/s 00125 -008-0942-y）。
Mutations in the GCK and HNF1A genes are the most common cause of the monogenic forms of diabetes known as ‘maturity-onset diabetes of the young’. GCK encodes the glucokinase enzyme, which acts as the pancreatic glucose sensor, and mutations result in stable, mild fasting hyperglycaemia. A progressive insulin secretory defect is seen in patients with mutations in the HNF1A and HNF4A genes encoding the transcription factors hepatocyte nuclear factor-1 alpha and -4 alpha. A molecular genetic diagnosis often changes management, since patients with GCK mutations rarely require pharmacological treatment and HNF1A/4A mutation carriers are sensitive to sulfonylureas. These monogenic forms of diabetes are often misdiagnosed as type 1 or 2 diabetes. Best practice guidelines for genetic testing were developed to guide testing and reporting of results. A workshop was held to discuss clinical criteria for testing and the interpretation of molecular genetic test results. The participants included 22 clinicians and scientists from 13 countries. Draft best practice guidelines were formulated and edited using an online tool (http://www.coventi.com). An agreed set of clinical criteria were defined for the testing of babies, children and adults for GCK, HNF1A and HNF4A mutations. Reporting scenarios were discussed and consensus statements produced. Best practice guidelines have been established for monogenic forms of diabetes caused by mutations in the GCK, HNF1A and HNF4A genes. The guidelines include both diagnostic and predictive genetic tests and interpretation of the results. For members of the EMQN MODY group see the Appendix. For details of their affiliations, see the Electronic supplementary material which is available to authorised users via the online version of this article (doi:10.1007/s00125-008-0942-y).
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